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CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma
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| Zeitschriftentitel: | Pigment Cell & Melanoma Research |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , , |
| In: | Pigment Cell & Melanoma Research, 21, 2008, 6, S. 700-709 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Pastorino, L. Bonelli, L. Ghiorzo, P. Queirolo, P. Battistuzzi, L. Balleari, E. Nasti, S. Gargiulo, S. Gliori, S. Savoia, P. Abate Osella, S. Bernengo, M. G. Bianchi Scarrà, G. Pastorino, L. Bonelli, L. Ghiorzo, P. Queirolo, P. Battistuzzi, L. Balleari, E. Nasti, S. Gargiulo, S. Gliori, S. Savoia, P. Abate Osella, S. Bernengo, M. G. Bianchi Scarrà, G. |
|---|---|
| author |
Pastorino, L. Bonelli, L. Ghiorzo, P. Queirolo, P. Battistuzzi, L. Balleari, E. Nasti, S. Gargiulo, S. Gliori, S. Savoia, P. Abate Osella, S. Bernengo, M. G. Bianchi Scarrà, G. |
| spellingShingle |
Pastorino, L. Bonelli, L. Ghiorzo, P. Queirolo, P. Battistuzzi, L. Balleari, E. Nasti, S. Gargiulo, S. Gliori, S. Savoia, P. Abate Osella, S. Bernengo, M. G. Bianchi Scarrà, G. Pigment Cell & Melanoma Research CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma Dermatology General Biochemistry, Genetics and Molecular Biology Oncology |
| author_sort |
pastorino, l. |
| spelling |
Pastorino, L. Bonelli, L. Ghiorzo, P. Queirolo, P. Battistuzzi, L. Balleari, E. Nasti, S. Gargiulo, S. Gliori, S. Savoia, P. Abate Osella, S. Bernengo, M. G. Bianchi Scarrà, G. 1755-1471 1755-148X Wiley Dermatology General Biochemistry, Genetics and Molecular Biology Oncology http://dx.doi.org/10.1111/j.1755-148x.2008.00512.x <jats:title>Summary</jats:title><jats:p>We evaluated the contribution of germline CDKN2A mutations and MC1R variants to the development of melanoma in a hospital‐based study of single (SPM, n = 398) and multiple primary melanoma (MPM, n = 95). The overall frequency of CDKN2A mutations was 15.2%, and four‐fold higher in MPM than in SPM cases (OR = 4.27; 95% CI 2.43–7.53). The likelihood of identifying a CDKN2A mutation increased with family history of melanoma and younger age at diagnosis in MPM cases. Compared to SPM patients, the risk of harboring a CDKN2A mutation rose as the number of primary melanomas increased and was not influenced by family history. The G101W and E27X founder mutations were the most common. Several other mutations (W15X, Q50X, R58X, A68L, A127P and H142R) were detected for the first time in Italian patients. One novel mutation, T77A, was identified. Several non‐coding variants with unknown functional significance were also found (5′UTR −25C > T, −21C > T, −67G > C, IVS1 +37G > C); the novel 5′UTR −21C > T variant was not detected in controls. The CDKN2A A148T polymorphism was more frequent in MPM patients than in the control population (15.7% versus 6.6%). Compared to the SPM patients, MPM cases had a 2‐fold increased probability of being MC1R variant carriers and a higher probability of carrying two or more variants. No specific association was observed between the type of variant and the number of melanomas, suggesting that the number rather than the type of MC1R variant increases the risk of MPM. We observed no interaction between CDKN2A status and the presence of MC1R variants. The high frequency of CDKN2A mutations in our MPM cases, independent of their family history, is of relevance to genetic counseling and testing in our population.</jats:p> CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma Pigment Cell & Melanoma Research |
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10.1111/j.1755-148x.2008.00512.x |
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| title |
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma |
| title_unstemmed |
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma |
| title_full |
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma |
| title_fullStr |
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma |
| title_full_unstemmed |
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma |
| title_short |
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma |
| title_sort |
cdkn2a mutations and mc1r variants in italian patients with single or multiple primary melanoma |
| topic |
Dermatology General Biochemistry, Genetics and Molecular Biology Oncology |
| url |
http://dx.doi.org/10.1111/j.1755-148x.2008.00512.x |
| publishDate |
2008 |
| physical |
700-709 |
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<jats:title>Summary</jats:title><jats:p>We evaluated the contribution of germline CDKN2A mutations and MC1R variants to the development of melanoma in a hospital‐based study of single (SPM, n = 398) and multiple primary melanoma (MPM, n = 95). The overall frequency of CDKN2A mutations was 15.2%, and four‐fold higher in MPM than in SPM cases (OR = 4.27; 95% CI 2.43–7.53). The likelihood of identifying a CDKN2A mutation increased with family history of melanoma and younger age at diagnosis in MPM cases. Compared to SPM patients, the risk of harboring a CDKN2A mutation rose as the number of primary melanomas increased and was not influenced by family history. The G101W and E27X founder mutations were the most common. Several other mutations (W15X, Q50X, R58X, A68L, A127P and H142R) were detected for the first time in Italian patients. One novel mutation, T77A, was identified. Several non‐coding variants with unknown functional significance were also found (5′UTR −25C > T, −21C > T, −67G > C, IVS1 +37G > C); the novel 5′UTR −21C > T variant was not detected in controls. The CDKN2A A148T polymorphism was more frequent in MPM patients than in the control population (15.7% versus 6.6%). Compared to the SPM patients, MPM cases had a 2‐fold increased probability of being MC1R variant carriers and a higher probability of carrying two or more variants. No specific association was observed between the type of variant and the number of melanomas, suggesting that the number rather than the type of MC1R variant increases the risk of MPM. We observed no interaction between CDKN2A status and the presence of MC1R variants. The high frequency of CDKN2A mutations in our MPM cases, independent of their family history, is of relevance to genetic counseling and testing in our population.</jats:p> |
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| author | Pastorino, L., Bonelli, L., Ghiorzo, P., Queirolo, P., Battistuzzi, L., Balleari, E., Nasti, S., Gargiulo, S., Gliori, S., Savoia, P., Abate Osella, S., Bernengo, M. G., Bianchi Scarrà, G. |
| author_facet | Pastorino, L., Bonelli, L., Ghiorzo, P., Queirolo, P., Battistuzzi, L., Balleari, E., Nasti, S., Gargiulo, S., Gliori, S., Savoia, P., Abate Osella, S., Bernengo, M. G., Bianchi Scarrà, G., Pastorino, L., Bonelli, L., Ghiorzo, P., Queirolo, P., Battistuzzi, L., Balleari, E., Nasti, S., Gargiulo, S., Gliori, S., Savoia, P., Abate Osella, S., Bernengo, M. G., Bianchi Scarrà, G. |
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| description | <jats:title>Summary</jats:title><jats:p>We evaluated the contribution of germline CDKN2A mutations and MC1R variants to the development of melanoma in a hospital‐based study of single (SPM, n = 398) and multiple primary melanoma (MPM, n = 95). The overall frequency of CDKN2A mutations was 15.2%, and four‐fold higher in MPM than in SPM cases (OR = 4.27; 95% CI 2.43–7.53). The likelihood of identifying a CDKN2A mutation increased with family history of melanoma and younger age at diagnosis in MPM cases. Compared to SPM patients, the risk of harboring a CDKN2A mutation rose as the number of primary melanomas increased and was not influenced by family history. The G101W and E27X founder mutations were the most common. Several other mutations (W15X, Q50X, R58X, A68L, A127P and H142R) were detected for the first time in Italian patients. One novel mutation, T77A, was identified. Several non‐coding variants with unknown functional significance were also found (5′UTR −25C > T, −21C > T, −67G > C, IVS1 +37G > C); the novel 5′UTR −21C > T variant was not detected in controls. The CDKN2A A148T polymorphism was more frequent in MPM patients than in the control population (15.7% versus 6.6%). Compared to the SPM patients, MPM cases had a 2‐fold increased probability of being MC1R variant carriers and a higher probability of carrying two or more variants. No specific association was observed between the type of variant and the number of melanomas, suggesting that the number rather than the type of MC1R variant increases the risk of MPM. We observed no interaction between CDKN2A status and the presence of MC1R variants. The high frequency of CDKN2A mutations in our MPM cases, independent of their family history, is of relevance to genetic counseling and testing in our population.</jats:p> |
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| imprint | Wiley, 2008 |
| imprint_str_mv | Wiley, 2008 |
| institution | DE-Brt1, DE-D161, DE-Gla1, DE-Zi4, DE-15, DE-Pl11, DE-Rs1, DE-105, DE-14, DE-Ch1, DE-L229, DE-D275, DE-Bn3 |
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| spelling | Pastorino, L. Bonelli, L. Ghiorzo, P. Queirolo, P. Battistuzzi, L. Balleari, E. Nasti, S. Gargiulo, S. Gliori, S. Savoia, P. Abate Osella, S. Bernengo, M. G. Bianchi Scarrà, G. 1755-1471 1755-148X Wiley Dermatology General Biochemistry, Genetics and Molecular Biology Oncology http://dx.doi.org/10.1111/j.1755-148x.2008.00512.x <jats:title>Summary</jats:title><jats:p>We evaluated the contribution of germline CDKN2A mutations and MC1R variants to the development of melanoma in a hospital‐based study of single (SPM, n = 398) and multiple primary melanoma (MPM, n = 95). The overall frequency of CDKN2A mutations was 15.2%, and four‐fold higher in MPM than in SPM cases (OR = 4.27; 95% CI 2.43–7.53). The likelihood of identifying a CDKN2A mutation increased with family history of melanoma and younger age at diagnosis in MPM cases. Compared to SPM patients, the risk of harboring a CDKN2A mutation rose as the number of primary melanomas increased and was not influenced by family history. The G101W and E27X founder mutations were the most common. Several other mutations (W15X, Q50X, R58X, A68L, A127P and H142R) were detected for the first time in Italian patients. One novel mutation, T77A, was identified. Several non‐coding variants with unknown functional significance were also found (5′UTR −25C > T, −21C > T, −67G > C, IVS1 +37G > C); the novel 5′UTR −21C > T variant was not detected in controls. The CDKN2A A148T polymorphism was more frequent in MPM patients than in the control population (15.7% versus 6.6%). Compared to the SPM patients, MPM cases had a 2‐fold increased probability of being MC1R variant carriers and a higher probability of carrying two or more variants. No specific association was observed between the type of variant and the number of melanomas, suggesting that the number rather than the type of MC1R variant increases the risk of MPM. We observed no interaction between CDKN2A status and the presence of MC1R variants. The high frequency of CDKN2A mutations in our MPM cases, independent of their family history, is of relevance to genetic counseling and testing in our population.</jats:p> CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma Pigment Cell & Melanoma Research |
| spellingShingle | Pastorino, L., Bonelli, L., Ghiorzo, P., Queirolo, P., Battistuzzi, L., Balleari, E., Nasti, S., Gargiulo, S., Gliori, S., Savoia, P., Abate Osella, S., Bernengo, M. G., Bianchi Scarrà, G., Pigment Cell & Melanoma Research, CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma, Dermatology, General Biochemistry, Genetics and Molecular Biology, Oncology |
| title | CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma |
| title_full | CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma |
| title_fullStr | CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma |
| title_full_unstemmed | CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma |
| title_short | CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma |
| title_sort | cdkn2a mutations and mc1r variants in italian patients with single or multiple primary melanoma |
| title_unstemmed | CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma |
| topic | Dermatology, General Biochemistry, Genetics and Molecular Biology, Oncology |
| url | http://dx.doi.org/10.1111/j.1755-148x.2008.00512.x |